Congenital disorders of glycosylation
Gene: PIGMEnsemblGeneIds (GRCh38): ENSG00000143315
EnsemblGeneIds (GRCh37): ENSG00000143315
OMIM: 610273, Gene2Phenotype
PIGM is in 7 panels
2 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated to green and the mode of inheritance updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.Created: 4 May 2024, 11:48 a.m. | Last Modified: 4 May 2024, 11:48 a.m.
Panel Version: 5.3
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 21 Nov 2023, 2:07 p.m. | Last Modified: 21 Nov 2023, 2:07 p.m.
Panel Version: 4.13
A single PIGM variant (NM_145167.2(PIGM):c.-270C>G)(rs587776528) has been associated with Glycosylphosphatidylinositol deficiency, (OMIM:610293) and as limited Gen2Phen gene for the same condition.
To date, this variant has only been reported in people of Arab or Turkish descent. Microsatellite- and SNP-based haplotypes encompassing PIGM reported in PMID:19168132, suggested that a founder effect in the two families (one Arab and one Turkish) was unlikely. However, subsequent occurrences of the variant in two additional unrelated Arab families (PMID: 31445883) might suggest that this variant is confined within the Middle Eastern populations.
Functional studies have shown that this variant reduces transcription of PIGM and blocks mannosylation of glycosylphosphatidylinositol anchor (PMID: 16767100).Created: 21 Nov 2023, 2:01 p.m. | Last Modified: 21 Nov 2023, 2:35 p.m.
Panel Version: 4.13
Comment on phenotypes: Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency;Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylationCreated: 21 Nov 2023, 11:45 a.m. | Last Modified: 21 Nov 2023, 11:45 a.m.
Panel Version: 4.11
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. One promoter variant ( c.-270C>G) reported in two unrelated families, together with supporting in vitro evidence.Created: 19 Dec 2016, 2:31 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Literature
- Phenotypes
-
- Glycosylphosphatidylinositol deficiency, OMIM:610293
- Tags
- OMIM
- 610273
- Clinvar variants
- Variants in PIGM
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q4_23_promote_green was removed from gene: PIGM.
Added New Source, Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source Expert Review Green was added to PIGM. Source NHS GMS was added to PIGM. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag, Added Tag
Sarah Leigh (Genomics England Curator)Tag non-coding-known-pathogenic tag was added to gene: PIGM. Tag Q4_23_promote_green tag was added to gene: PIGM.
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: pigm has been classified as Amber List (Moderate Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: PIGM were set to 27604308; 16767100; 25293775
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: PIGM were changed from Glycosylphosphatidylinositol deficiency, 610293; Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency; Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation to Glycosylphosphatidylinositol deficiency, OMIM:610293
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for PIGM were set to Glycosylphosphatidylinositol deficiency, 610293; Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency; Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for PIGM were set to Glycosylphosphatidylinositol deficiency, 610293; Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to V1 19th December 2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for PIGM were set to 27604308; 16767100; 25293775
Added New Source
Sarah Leigh (Genomics England Curator)PIGM was added to Congenital disorders of glycosylationpanel. Source: Radboud University Medical Center, Nijmegen
Created
Sarah Leigh (Genomics England Curator)PIGM was created by sleigh
Added New Source
Sarah Leigh (Genomics England Curator)PIGM was added to Congenital disorders of glycosylationpanel. Sources: Literature